Trisomy 18 and Microdeletion 18p Mosaicism: A case report and literature review
Wei TANG1; Xiao-Ying WANG1.2; *Chao-Chun ZOU1
1Department of Endocrinology, the Children’s Hospital of Zhejiang University School of Medicine
2Department of Pediatrics, the First people’s Hospital of Jiande
*Corresponding author
*Chao-Chun ZOU, Department of Endocrinology, the Children’s Hospital of Zhejiang University School
of Medicine, 3333 Binsheng Road, Hangzhou 310051, China, Tel: +86-15067123060,
Email: zcc14@zju.edu.cn
DOI: 10.55920/JCRMHS.2022.01.001016

Figure 1: Clinical manifestation and karyotype of our patient. (A and B) thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, downturned corners of the mouth, small hands and fingers bilaterally; C) dysplasia teeth; (D) Karyotype shows 46,XX, psu idic (18)(p11.2)[55]/46,XX, del (18)(p11.2)[45]
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